A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962676



Internal ID18251233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36556701..36560335hg38UCSC Ensembl
Innerchr21:37928999..37932633hg19UCSC Ensembl
Innerchr21:36850869..36854503hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg383635
hg193635
hg183635
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2246967, nssv2246966, nssv2246968, nssv2246963, nssv2246959, nssv2246960, nssv2246961, nssv2246964, nssv2246962, nssv2246965
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCLDN14
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962676
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer